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Disease	Synonyms	Description
chromosome 16p11.2 deletion syndrome, 220kb	distal 16p11.2 microdeletion syndrome	n_a
chromosome 18p deletion syndrome	De Grouchy syndrome; 18p- syndrome; monosomy 18p	n_a
chromosome 18q deletion syndrome	deletion 18q; 18q- syndrome; monosomy 18q	A chromosomal deletion syndrome that has_material_..[+] A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. [-]
chromosome 1p36 deletion syndrome	deletion 1p36; 1p36 deletion syndrome; monosomy 1p.. [+] deletion 1p36; 1p36 deletion syndrome; monosomy 1p36; subtelomeric 1p36 deletion [-]	n_a
chromosome 22q11.2 deletion syndrome, distal	distal 22q11.2 microdeletion syndrome	n_a
3p- syndrome	distal monosomy 3p; chromosome 3pter-P25 deletion .. [+] distal monosomy 3p; chromosome 3pter-P25 deletion syndrome [-]	n_a
chromosome 6pter-p24 deletion syndrome	distal monosomy 6p; 6p subtelomeric deletion syndr.. [+] distal monosomy 6p; 6p subtelomeric deletion syndrome; 6p25 microdeletion syndrome [-]	n_a
chromosome 16p13.3 duplication syndrome	distal duplication 16p; distal trisomy 16p; 16p13... [+] distal trisomy 16p; distal duplication 16p; 16p13.3 microduplication syndrome; telomeric duplication 16p [-]	n_a
chromosome 22q11.2 microduplication syndrome	duplication 22q11.2; 22q11.2 microduplication synd.. [+] duplication 22q11.2; 22q11.2 microduplication syndrome; trisomy 22q11.2 [-]	A chromosomal duplication syndrome that has_materi..[+] A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. [-]
lysinuric protein intolerance	dibasic amino aciduria II; hyperdibasic aminoacidu.. [+] dibasic amino aciduria II; hyperdibasic aminoaciduria; LPI [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. [-]
Feingold syndrome	digital anomalies with short palpebral fissures an.. [+] digital anomalies with short palpebral fissures and atresia of esophagus or duodenum; FGLDS; microcephaly-digital anomalies-normal intelligence syndrome; microcephaly-oculo-digito-esophageal-duodenal syndrome; MODED syndrome; oculo-digito-esophageal-duodenal syndrome; ODED syndrome [-]	A syndrome characterized by variable combinations ..[+] A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. [-]
zebrafish allergy	Danio rerio allergy	A fish allergy triggered by Danio rerio.
isolated anhidrosis with normal sweat glands	Dann-Epstein-Sohar syndrome	An anhidrosis that has_material_basis in homozygou..[+] An anhidrosis that has_material_basis in homozygous mutation in the ITPR2 gene on chromosome 12p11. [-]
NGLY1-deficiency	deficiency of N-glycanase 1; congenital disorder o.. [+] deficiency of N-glycanase 1; congenital disorder of deglycosylation; congenital disorder of glycosylation type Iv; NGLY1-CDDG [-]	A carbohydrate metabolic disorder that has_materia..[+] A carbohydrate metabolic disorder that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 1p24. It is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. [-]
torsion dystonia 1	dystonia musculorum deformans	A generalized dystomia characterized by autosomal ..[+] A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. [-]
Pendred Syndrome	deafness with goiter; congenital hypothyroidism du.. [+] deafness with goiter; congenital hypothyroidism due to dyshormonogenesis 2B; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B [-]	An autosomal recessive disease characterized by bi..[+] An autosomal recessive disease characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]
basal laminar drusen	drusen of bruch membrane; cuticular drusen; early .. [+] drusen of bruch membrane; cuticular drusen; early adult-onset grouped drusen [-]	A retinal drusen characterized by yellow-white dep..[+] A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. [-]
autosomal dominant Robinow syndrome 2	DRS2	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. [-]
autosomal dominant Robinow syndrome 1	DRS1	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. [-]
autosomal dominant Robinow syndrome 3	DRS3	A Robinow syndrome characterized by autosomal domi..[+] A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. [-]
microvillus inclusion disease	diarrhea 2 with microvillus atrophy; Davidson dise.. [+] diarrhea 2 with microvillus atrophy; Davidson disease; congenital familial protracted diarrhea with enterocyte brush-border abnormalities; congenital microvillus atrophy; intractable diarrhea of infancy; MVD [-]	A congenital diarrhea characterized by onset of in..[+] A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. [-]
congenital diarrhea 5 with tufting enteropathy	DIAR5; congenital familial intractable diarrhea wi.. [+] DIAR5; congenital familial intractable diarrhea with epithelial or epithelium abnormalities; congenital tufting enteropathy; tufting enteropathy [-]	A congenital diarrhea characterized by intractable..[+] A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. [-]
congenital secretory sodium diarrhea 8	DIAR8	A secretory diarrhea that has_material_basis_in ho..[+] A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. [-]
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism	dentoleukoencephalopathy; ataxia-delayed dentition.. [+] dentoleukoencephalopathy; ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy; HLD7; hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome; leukodystrophy with oligodontia; leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome; TACH syndrome; tremor-ataxia-central hypomyelination syndrome [-]	A hypomyelinating leukodystrophy characterized by ..[+] A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. [-]
septooptic dysplasia	De Morsier syndrome; septo-optic dysplasia; SOD	A syndrome characterized by the classical triad of..[+] A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. [-]
isolated growth hormone deficiency type IB	dwarfism of Sindh; congenital IGHD type IB; congen.. [+] dwarfism of Sindh; congenital IGHD type IB; congenital isolated GH deficiency type IB; congenital isolated growth hormone deficiency type IB; IGHD IB [-]	An isolated growth hormone deficiency characterize..[+] An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. [-]
autosomal dominant dyskeratosis congenita 1	Dyskeratosis Congenita, Scoggins Type; DKCA1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2. [-]
autosomal recessive dyskeratosis congenita 1	DKCB1	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. [-]
autosomal dominant dyskeratosis congenita 2	DKCA2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 2	DKCB2	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. [-]
autosomal dominant dyskeratosis congenita 3	DKCA3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12. [-]
autosomal recessive dyskeratosis congenita 3	DKCB3	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. [-]
autosomal dominant dyskeratosis congenita 4	DKCA4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33. [-]
autosomal recessive dyskeratosis congenita 4	DKCB4	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of TERT on chromosome 5p15.33. [-]
autosomal recessive dyskeratosis congenita 5	DKCB5	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. [-]
autosomal dominant dyskeratosis congenita 6	DKCA6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. [-]
autosomal recessive dyskeratosis congenita 6	DKCB6	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of PARN on chromosome 16p13.12. [-]
X-linked dyskeratosis congenita	DKCX; Zinsser-Cole-Engman syndrome	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of DKC1 on chromosome Xq28. [-]
Revesz syndrome	Dyskeratosis Congenita, Autosomal Dominant 5; DKCA.. [+] Dyskeratosis Congenita, Autosomal Dominant 5; DKCA5; exudative retinopathy with bone marrow failure [-]	A dyskeratosis congenita that has_material_basis_i..[+] A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. [-]
autosomal dominant intellectual developmental disorder 7	DYRK1A syndrome; autosomal dominant mental retarda.. [+] DYRK1A syndrome; autosomal dominant mental retardation 7; MRD7; autosomal dominant non-syndromic intellectual disability 7 [-]	An autosomal dominant intellectual developmental d..[+] An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. [-]
autosomal recessive cutis laxa type IIIA	De Barsy syndrome A; ARCL3A	A autosomal recessive cutis laxa type III that has..[+] A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. [-]
autosomal recessive cutis laxa type IIIB	De Barsy syndrome B; ARCL3B	An autosomal recessive cutis laxa type III that ha..[+] An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. [-]
autosomal recessive cutis laxa type III	De Barsy syndrome; cutis laxa-corneal clouding-int.. [+] De Barsy syndrome; cutis laxa-corneal clouding-intellectual disability syndrome [-]	A cutis laxa characterized by a progeria-like appe..[+] A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. [-]
congenital disorder of glycosylation type IIm	developmental and epileptic encephalopathy 22; con.. [+] developmental and epileptic encephalopathy 22; congenital disorder of glycosylation type 2m; epileptic encephalopathy, early infantile, 22; SLC35A2-CDG [-]	A congenital disorder of glycosylation type II tha..[+] A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. [-]
myofibrillar myopathy 1	desminopathy	n_a
mitochondrial DNA depletion syndrome 3	deoxyguanosine kinase deficiency	A mitochondrial DNA depletion syndrome that is cha..[+] A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. [-]
herpes simplex virus keratitis	dendritic keratitis	A keratitis that has_material_basis_in herpes simp..[+] A keratitis that has_material_basis_in herpes simplex type infection. [-]
Heimler syndrome 1	Deafness-enamel hypoplasia-nail defects syndrome; .. [+] Deafness-enamel hypoplasia-nail defects syndrome; peroxisomal biogenesis disorder 1C [-]	A peroxisomal biogenesis disorder that is characte..[+] A peroxisomal biogenesis disorder that is characterised by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. [-]
acute myeloid leukemia with t(6;9) (p23;q34.1)	DEK-NUP214; DEK-NUP214; Acute Myeloid Leukemia wit.. [+] DEK-NUP214; DEK-NUP214; Acute Myeloid Leukemia with t(6; 9) (p23; q34.1); acute myeloid leukemia with t(6; 9)(p23; q34) [-]	An acute myeloid leukemia associated with t(6; 9)(..[+] An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. [-]
acromesomelic dysplasia-3	Demirhan-type acromesomelic dysplasia	An acromesomelic dysplasia that has_material_basis..[+] An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. [-]

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